Canonical Allele Identifier: CA383027377

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456973T>G (hg19) ; chr11:g.121586264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586264T>G , CM000673.2:g.121586264T>G	GRCh38
NC_000011.9:g.121456973T>G , CM000673.1:g.121456973T>G	GRCh37
NC_000011.8:g.120962183T>G	NCBI36
NG_023313.1:g.139013T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3749T>G MANE Select	ENSP00000260197.6:p.Ile1250Ser
ENST00000260197.11:c.3749T>G	ENSP00000260197.6:p.Ile1250Ser
ENST00000525532.5:c.581T>G	ENSP00000434634.1:p.Ile194Ser
ENST00000532694.5:c.287T>G	ENSP00000432131.1:p.Ile96Ser
ENST00000534286.5:c.479T>G	ENSP00000436447.1:p.Ile160Ser
NM_003105.5:c.3749T>G	NP_003096.1:p.Ile1250Ser
XM_011542963.1:c.3635T>G	XP_011541265.1:p.Ile1212Ser
XM_011542964.1:c.3749T>G	XP_011541266.1:p.Ile1250Ser
XM_011542965.1:c.2210T>G	XP_011541267.1:p.Ile737Ser
XM_011542966.1:c.1109T>G	XP_011541268.1:p.Ile370Ser
XM_011542967.1:c.581T>G	XP_011541269.1:p.Ile194Ser
XM_011542963.3:c.3635T>G	XP_011541265.1:p.Ile1212Ser
XM_011542965.3:c.2210T>G	XP_011541267.1:p.Ile737Ser
XM_011542967.3:c.581T>G	XP_011541269.1:p.Ile194Ser
XM_017018169.2:c.3437T>G	XP_016873658.1:p.Ile1146Ser
XM_017018170.2:c.3224T>G	XP_016873659.1:p.Ile1075Ser
XM_017018171.1:c.3749T>G	XP_016873660.1:p.Ile1250Ser
XM_017018172.2:c.1109T>G	XP_016873661.1:p.Ile370Ser
NM_003105.6:c.3749T>G MANE Select	NP_003096.2:p.Ile1250Ser